EURORDIS Membership Meeting 2011 Paula Brito e Costa Amsterdam, 13th May2011

1. “Patient’s Experience in the
Development and
Implementation of NATIONAL
PLANS”
EURORDIS Membership Meeting 2011
Paula Brito e Costa
Amsterdam, 13th May 2011

2. Raríssimas
Mission and Objectives
Mission
Raríssimas was founded in 2002 with the
goal of helping patients, families, friends
and all the ones closely affected by Rare
Diseases or interested in this subject.
Strategic Objectives
Spreading information about rare diseases;
Promoting the integrated management/follow up of the
patients with rare diseases;
Contributing to a positive differentiation concerning diagnosis, information about
medical services/specialties, treatment and therapeutics;
Raising awareness about the importance of gaining competences concerning rare
diseases subject.

3. Raríssimas
Operational Goals
• Creating a Help Line – LINHA RARA to
provide information and support to
families, health professionals, etc.
• Developing a New Website with
updated and quality information on
Rare Diseases, from A to Z ”;
• Opening two Multi-disciplinary Centers
for treatment of Rare Diseases – Centro
RarÍSSIMO - Lisboa and Porto;
• Implementing investigation projects,
locally, nationally and internationally;
• Building Casa dos Marcos (respite
centre for Rare Disease patients).
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4. Raríssimas
A model based on innovation…
• In the way we present
ourselves; • In the way we lobby (at the
ground base, at middle levels,
• In the way we communicate; high levels and community
levels;
• In the way the Association is
managed; • In the way we define political
strategies and implement
them;
• In the way we interact with
our partners/stakeholders;
• In the way we build Casa dos
Marcos.
• In the way we advocate for
the patient;

5. Raríssimas
“Because no one does anything alone”
Maria Cavaco Silva – Portuguese First Lady
• Unite efforts = Unite people
• Define short-medium term strategies;
• Present defined strategies publically;
• Discuss and share strategies with political
forces;
• Support implementation of strategies ASAP;
• Persistency

6. Raríssimas
But much more is needed…
Consulting at the highest level:
• Juridical
• Financial
• Communication
• Education
• Image
• Strategy
• Lobbying

7. Raríssimas
Current Strengthening
Scientific Council - President - António Vaz Carneiro
Consultive Council for Strategic Reflection -
Statuary Organ - President - Maria Leonor Beleza
General Assembly - President - Francisco Sá Carneiro
Fiscal Council - President - António Trindade Nunes

8. Raríssimas
Consultive Council for Strategic
Reflection
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9. Raríssimas
Consultive Council for Strategic
Reflection
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10. Raríssimas
And the National Plan for DR is born!
• Because rare diseases gather innumerous
unfavorable factors;
• Because Portugal has a National Health
System;
• Because there was already some work done
in specific areas ( National Plan for
Hemoglobinopathies – 1987)
• Existence of National Early Diagnosis Program
- 1979

11. Raríssimas
The need to re-think intervention on
Rare Diseases
• On an integrated level
• Building partnerships
• Assigning responsibilities to ALL social actors
• Creating a new vision of the Portuguese State

12. Raríssimas
National Plan for RD – Uniting Efforts
Patient Associations Ministry of Health
• Strong pressure over public • Created by the Directorate -
institutions General of Health
• Effective desire to achieve • Signed by the Minister of
elaboration, discussion and Health in November 2008
concretization of the
• Intention to include the NPRD
measures proposed
in the National Health Plan
• Strong communication (written but not yet accomplished)
component in order to • Health Minister signed the
achieve goals proposed in agreement for the
the National Plan implementation of reference
• Active partners centers for RD in January 2011

13. Raríssimas
“United We Are Stronger”, but…
• Portugal faces economical recession; • Portugal has the means to
• On the International day for RD, the accomplish the implementation of
National RD Federation (FEDRA) the NPRD, but the Government is
publically denounces inequalities cautious;
concerning patients’ access to Orphan
Drugs; • The Government provides replies to
• There is a massive response all over the issues of inequalities on a daily basis;
country; • With a “management Government”,
• FEDRA sees its representativeness the Directorate-General of Health
growing; and FEDRA are rushing processes to
• FEDRA reinforces its strategy and social create the 1s reference centers;
partners intervene to provide support;
• Government falls creating a window of • FEDRA reinforces appeals to the
opportunity for Rare Diseases; Health Minister in order to see the
• For the 1st time, FEDRA participates in NPRD included in the National
the Parliamentary Commission for Health Plan – no response from the
Health Health Minister!

14. Raríssimas
Rare Diseases from A to Z - Presentation

15. Raríssimas
Un unconditional support
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16. Raríssimas
Un unconditional support

17. Raríssimas
Scientific Council

18. Raríssimas
Besides fighting… we create
solutions
Building Casa dos Marcos (respite Center for RD Patients)

19. Raríssimas
Besides fighting… we create
solutions

20. Casa dos Marcos
Assistential Model
• 1 residential unit - 24 patients
• 1 autonomous residential unit – 5 patients
• 1 unite of Occupational Activities Center – 30
patients
• 1 rehabilitation unit (open to the community)
• 1 clinical unit (open to the community)
• 1 unit of continuous medical care – 30 patients,
connected to the national network of medical care
facilities
• 1 private unit of medical care – 9 patients
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21. Raríssimas
Besides fighting… we create
Website about solutions
Rare Diseases
from A to Z

22. Raríssimas
This is how we make history…
With love and because of love

23. Thank you!